Varsearch: Annotating Variations Using An E-Genomics Framework

Nowadays experts in the genomics field work with bioinformatics tools (software) to generate genomic diagnoses, but the reality is that these solutions do not fully meet their needs. From the perspective of Information Systems (IS), the real problems lie in the lack of an approach (i.e., Software Engineering techniques) that can generate correct structures for data management. Due to the problems of dispersion, heterogeneity and the inconsistency of the data, understanding the genomic domain is a huge challenge. To demonstrate the advantages of Conceptual Modeling (CM) in complex domains -such as genomics- we propose "VarSearch", a web-based tool for genomic diagnosis that incorporates the Conceptual Model of the Human Genome (CMHG) and takes advantage of Next-Generation Sequencing (NGS) for ensuring genomic diagnostics that help to maximize the Precision Medicine (PM).